MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: scleral disease (MONDO:0001269)
..Starting node ..scleral staphyloma (disease) ()
Child Nodes:
........equatorial staphyloma ()
........localized anterior staphyloma ()
........ring staphyloma ()
........staphyloma posticum ()
Sister Nodes:
..episcleritis periodica fugax ()
..nodular episcleritis ()
..scleral staphyloma (disease) ()
..scleritis (disease) ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1321
Name:	scleral staphyloma (disease)
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	scleral ectasia; scleral staphyloma
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal